ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.761A>G (p.Lys254Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720638 SCV005329391 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.761A>G (p.Lys254Arg) in OPHN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys254Arg variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (SIFT - tolerated; Polyphen - possibly damaging; MutationTaster - disease causing) shows conflicting evidence on protein structure and function for this variant. The amino acid change p.Lys254Arg in OPHN1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 254 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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